IVF News

The UK's High Court has ruled that it may have been unlawful for a widow to have removed her dead husband's sperm. Despite UK law requiring valid written consent for the storage and use of sperm, the 42-year-old widow obtained emergency Court permission to have sperm collected from her 31-year-old husband's body hours after he unexpectedly died from complications with a routine operation to remove his appendix in June 2007. She now seeks authorisation to undergo IVF abroad using his sperm. Giving the judgment, Mr Justice Charles said: 'I am not satisfied it is possible to lawfully remove sperm from a dead person who has not given effective advanced consent'. 

The mother-of-one pleaded that the couple had wanted another child, discussed their desire with family and friends and had sought information regarding IVF together. She explained that they had not thought to have him provide written permission because they had not feared that the minor surgery would be fatal. While the attempt to construct retrospective consent with evidence of his intentions holds little legal weight in light of the clear statutory provisions, her lawyer also argued that disposal of his sperm would contravene her human right to establish a family (protected under article 8 of the European Convention on Human Rights, enshrined in UK law by the Human Rights Act 1998). Because fresh sperm will lose viability over time, the Court authorised the emergency sample collection pending later legal resolution. Upon closer examination at the hearing, Mr Justice Charles questioned the decision. 

The final decision now resides with the Human Fertilisation and Embryology Authority (HFEA), which regulates gamete storage and its use. If permission is denied, then the HFEA decision will likely be legally challenged as was done by Diane Blood in a similar case in 1997. HFEA chair, Lisa Jardine, commented that the organisation sympathises with these 'difficult' situations but 'must operate within the legislation'. 

This case, like the landmark Blood case, may turn on the statutory loophole that provides the HFEA discretionary powers to dispense with the consent requirements for the sperm to be exported - in accordance with an EU citizen's right to receive health treatment in another member state. 

Diane Blood ultimately won a protracted legal battle through the English Courts in 1997 and was able to conceive two sons using her late husband's sperm. The Bloods attempted to start a family but Stephen Blood contracted meningitis and lapsed into a coma - his sperm was collected shortly before he died in 1995. The HFEA refused Mrs Blood authorisation to use the sperm as she did not have written consent from her husband. The High Court upheld the authority's decision because the HFE Act does not provide discretionary powers to waive domestic consent requirements. The Court of Appeal agreed but also decided that the authority could have used a statutory discretion to allow the transport of Blood's sperm to Belgium for treatment.

In Blood's case, Lord Hoffman noted that the sperm's storage was unlawful without the requisite written consent. However, given the unprecedented circumstances, he realised it was necessary for the clinic to store the sperm first and decide the legality later. He commented that he did not foresee the Courts would consider the legality of exporting unlawfully stored sperm again. A decade later, posthumous sperm has unlawfully been stored pending resolution of new legal arguments and Mr Justice Charles has likewise declared the case a 'novelty' in the law. 

Following the Blood case, the Government held a review of the law. The 1998 report concluded that the 'written consent' requirement should remain. Coincidentally, on the same day last week, MPs in the lower house of Victoria, Australia passed a package of reproductive law reforms which included a controversial clause to allow women to conceive using their partner's posthumous gametes provided she has prior written consent.

[ Full Article ]

-Intracytoplasmic Morphologically Selected Sperm Injection (IMSI):

Coinciding with their 10^th anniversary (2010) CERAM have incorporated a new pioneer technique called IMSI, in their effort to provide the most advanced techniques in assisted reproduction to their patients. IMSI allows them to choose only those sperm with the best morphology for use in the assisted reproduction process, using a high resolution microscope that allows them to explore at 8000X magnification.  Exploring sperm at this magnification shows defects in sperm heads, shapes and sizes and any sperm abnormalities associated with high DNA fragmentation that cannot be seen in conventional microscopes used for ICSI, only the best morphological sperms will be micro-injected into the eggs, which would lead to higher pregnancy success.

This method is particularly helpful for patients with repeated failed IVF-attempts, to those whose sperm count is low, or has a large number of abnormal or immobile sperms.

more info: CERAM tel:+34 952829035 / +34 952901451

                email: [email protected] / [email protected] / [email protected]

[ Full Article ]

 CRi Oosight™ Imaging System a Key to Breakthrough Gene Replacement Method 

With Potential To Prevent Inherited Mitochondrial Diseases 

 

-Study Reported in Nature- 

 

August 27, 2009, Woburn, MA— U.S. researchers using CRi’s Oosight™ imaging 

system have developed a gene transfer technique that has potential to prevent inherited 

diseases passed on from mothers to their children through mutated DNA in cell 

mitochondria. The research, which demonstrated the technique in rhesus monkeys, 

appears in the Aug. 26 issue of the journal Nature. 

 

The group, headed by Dr. Shoukhrat Mitalipov of the Oregon National Primate Research 

Center and the Oregon Stem Cell Center, extracted the nuclear DNA from the mother’s 

egg, guided by the Oosight system, and transplanted it into another egg that had the 

nucleus removed. The technique allowed the mother to pass along her nuclear genetic 

material to her offspring without her mitochondrial DNA. The eggs were fertilized and 

transplanted into surrogate mothers, resulting in the birth of four apparently healthy 

monkeys. Defects in DNA of mitochondria, the cell’s “power plants,” are associated with 

a wide range of human diseases. 

 

The Oosight system solved a key problem in avoiding damage to the nuclear DNA during 

the transfer procedure by providing a non-invasive imaging technique for visualizing the 

genetic material. Traditional visualization methods employ a stain or involve exposure to 

ultraviolet light, either of which can damage DNA.  The Oregon team had used the 

Oosight system in previous research, published in Nature in 2007, that provided a 

foundation for the current study. In that research, they cloned rhesus monkey embryos 

and used them to create embryonic stem cells.  

 

The Oosight system uses polarized light to generate high-contrast, real-time images of 

biological features such as the spindle apparatus housing the chromosomes and other 

filamentous structures within the egg, such as the multi-layer zona pellucida, without the 

addition of toxic stains or labels, while simultaneously generating useful quantitative data 

of their structural composition. Two of the four offspring, Spindler and Spindy, were 

named after the spindle, which is what the Oosight system is used to visualize. 

 

“This study underscores the potential of the Oosight system to advance reproductive 

medicine and highlights the enabling capabilities or our polarized light technology,”  

 said George Abe, president and CEO of CRi.   

 

"With this advance, the Oosight imaging system, which is already widely used in fertility 

clinics, has offered new insights and possibilities into reproductive health and medicine," 

said Gary Borisy, director and CEO of the Marine Biological Laboratory (MBL) in 

Woods Hole, MA. The Oosight system is based on imaging technology originally 

developed by MBL scientists Rudolf Oldenbourg and Michael Shribek, working in 

collaboration with David Keefe, M.D., of the University of South Florida College of 

Medicine. 

 

In In Vitro Fertilization (IVF) the Oosight system is used as an aid to intracytosplasmic 

sperm injection (ICSI). The system not only provides assurance that the genetic material 

is not damaged by the injection needle, but it can also be used as a measurement tool to 

assess egg viability in both fresh and frozen eggs. Data show that an egg with a weak or 

malformed spindle and inner layer zona as measured with the system is much less likely 

to result in pregnancy. 

 

Other scientists have welcomed news of the advance. Mitochondria-expert Douglas 

Wallace of the University of California, Irvine, said “results were exciting” and the 

technique is “potentially very interesting.” Although he did caution that “there are safety 

issues that are going to need to be addressed before one could think about it in humans.” 

 

The Nature article reported that 15 embryos were transplanted into nine surrogate 

mothers; three became pregnant, one with twins, and four offspring were born (only three 

of these offspring have been reported in the Nature paper) The success rate is similar to 

that of conventional in vitro fertilization.  

 

A sample movie of the enucleation process that Dr. Mitalipov used is available at 

http://www.cri-inc.com/multimedia/Oosight_SCNT_Enucleation_Rhesus_Monkey.avi, 

(movie courtesy Dr. Mitalipov, OHSU). 

 

Contact CRi at [email protected] for more details. 

 

-- 

 

Cambridge Research & Instrumentation, Inc. (CRi) is a leader in biomedical imaging, 

and is dedicated to providing comprehensive solutions that analyze disease-specific 

information from biological and clinical samples in the combined physiological, 

morphological, and biochemical context of intact tissues and organisms for a variety of 

applications. With over 80 patents pending and issued, CRi’s award-winning innovations 

are being utilized around the world to enable our customers to perform leading research 

and provide better healthcare. 

 

For more information contact: 

 

Cathy Boutin 

Marketing Manager 

Cambridge Research & Instrumentation, Inc. (CRi) 

Tel. 781-935-9099 x180 

Email: [email protected] 

 

[ Full Article ]

UK scientists have used preimplantation genetic diagnosis (PGD) to help a couple conceive a baby unaffected by haemophilia, a serious inherited blood clotting disorder. A team at the Clinical Sciences Centre in Hammersmith, London and colleagues at Queen Charlotte's Hospital used a new test that directly detects the gene mutation responsible, allowing unaffected male and female embryos to be identified. Previously, PGD for haemophilia involved discarding all male embryos, since only boys are affected by the condition.



PGD can be carried out on IVF embryos, to ensure that only those unaffected by a particular genetic condition are returned to the woman's womb. It has been used since 1989 to test for diseases where the single gene involved has been identified (for example cystic fibrosis), and for disorders caused by mutations in X-chromosome genes. In the case of haemophilia and many other X-linked conditions, only boys are usually affected - the harmful effects of the mutated gene are masked by a working copy in girls, who have two X-chromosomes. Until now, PGD to avoid an X-linked condition involved testing embryos for the presence of a Y-chromosome, to identify male embryos. However, 50 per cent of these male embryos would be unaffected by the disorder.



In the latest case, reported by the Daily Telegraph, doctors used the new haemophilia test to help Debbie and Steve Hunter conceive an unaffected baby. Mrs Hunter is a carrier of haemophilia A, the most serious form of the disease, and her ten-year-old son Ben is affected by the condition. It is caused by a mutation in the Factor VIII gene, which makes a protein involved in blood clotting. All boys born to carrier women have a 50 per cent chance of being affected, while all girls will be unaffected. However, any girl born to a carrier mother has a 50 per cent chance of being a healthy carrier herself.



The Hunters underwent two cycles of IVF treatment, and the resulting embryos were tested for the presence of the mutation. 'We had two embryos suitable for return, one normal (either boy or girl) and one female who carried the disease', said team leader Professor Tuddenham. Both were implanted, one of which resulted in the birth of a healthy baby girl, Grace, who is now 12 weeks old. It is not yet known whether Grace is a carrier of the disease herself, but Professor Tuddenham says that 'we now have the means to end haemophilia in an affected blood line'. Mrs Hunter describes Grace as 'like any other normal baby. She is lovely, really lovely'.



The new test should lead to greater success rates when carrying out PGD for haemophilia, says team member Stuart Lavery. He explained that this is because there is a greater chance of having better quality embryos to transfer, since doctors can choose from a pool of 75 per cent of the embryos produced by the couple instead of 50 per cent. It also means that patients will potentially have the opportunity to have an unaffected son, as well as unaffected daughters. 'As the technology of single cell analysis becomes increasingly sophisticated, I expect that specific mutation analysis will replace embryo sexing for all X-linked conditions', Dr Lavery told BioNews.

[ Full Article ]

With the gradual and continual improvement of cryopreservation techniques comes an increased demand for these services. An example of this would be the increased reliance on the cryopreservation of embryos to support elective single embryo transfer (eSET) programmes. There is a more controversial side to these improvements, however: perhaps the most controversial being social oocyte cryopreservation, i.e. electing to freeze your oocytes for non-medical reasons.

There are a number of reasons why people would want to (or need to) freeze their eggs. The most common until recently was legislative, ethical or medical reasons. Some couples have ethical or moral objections to freezing embryos but not for oocytes. In Italy, for example, there are legal restrictions on the number of oocytes that can be inseminated and so a need has arisen for freezing supernumerary oocytes. Most Italian groups now have effective cryopreservation programmes. 

Medical reasons for oocyte freezing include the inability to have a suitable sperm sample on the day of collection. This could be an inability to produce a sample or a complete failure to find sperm in a testicular biopsy. Usually these couples would have donor sperm back-up, but the may elect not to use donor material or have not signed a consent for donor use before the procedure. Here the oocytes can be frozen until the sperm issue is resolved. 

Another possible reason for oocyte freezing would be where the ovaries are likely to be damaged as a result of medical treatment such as radio- or chemotherapy. This method is used only rarely as the patient has to undergo at least one round of stimulation to recover mature oocytes and their medical condition precludes this.

Social egg freezing generally arises because a woman chooses to delay bearing children. This could be because they wish to further their career before parenthood or have not found a partner with whom they wish to share parenthood. There is a second category of 'social' egg freezing: the donation of oocytes for paying customers. Failure to produce a pregnancy in these cycles has no impact on the donor since their transaction is purely financial. 

Since there are a number of institutions offering social egg freezing around the world it is opportune to have a critical assessment of the technology and some of the concerns that emerge from social egg freezing. 

A common perception is that oocyte freezing is inefficient and that the number of fetal heart pregnancies per oocyte is relatively low. Recent evaluation however shows that the benchmark of fetal hearts per thawed oocyte is very similar to the fresh benchmark of fetal hearts per oocyte recovered. Both of these figures are between five and ten per cent per oocyte. Modelling suggests that on average 2-3 cycles are required to give a maximum chance of a pregnancy for both types of cycle. The implication from this is that, for cryopreserved oocytes, at least 20 oocytes would give the best chances of a pregnancy. This could be deemed a reasonable chance for a medical freeze but for a social freeze the answer may be different.

Cryopreservation for social and not medical reasons means that the freezing institution is dealing with a customer and not an infertile patient. The management of customer expectations is radically different from infertile patients as there is nothing 'wrong' with them; they are simply using a service. Oocyte cryopreservation is often sold under a banner of 'future insurance'. Wording of consent forms and information sheets has to be precise and absolutely explicit about chances of success. Even so, with the best forms in the world the possibility of litigation by customers who do not achieve a pregnancy is a distinct possibility.

These customers would have invested several tens of thousands of dollars and a minimum of one stimulated cycle into their freezing and will be seriously aggrieved if their expectations are not met. In addition to meeting expectations and protecting oneself with contracts, consents etc, technology changes and as techniques improve so will results. What of oocytes frozen 10 years ago by a suboptimal method meaning that a customer does not get their desired outcome?

The potential here for 'trouble' is manifold and should be seriously considered before an institution engages in social egg freezing. I suspect that eggs frozen for social reasons will seldom be used or be used as a last resort by their owner. Since a pregnancy cannot be guaranteed then people will always try with their own fresh gametes before utilising their last chance. This might be the saving grace for the freezing institution in that they will not have to pick up the pieces after not achieving a pregnancy.

[ Full Article ]

High frequency and high intensity exercise can triple a woman's chances of experiencing fertility problems, say Norwegian researchers. Women who exercise every day or at such an extreme intensity that they become physically exhausted, have less chance of getting pregnant in the first year of trying than women who exercise 'moderately', says Dr Sigridur Gudmundsdottir, who led the research at the Norwegian University of Science and Technology.

'We believe it is likely that physical activity at a very high or very low level has a negative effect on fertility, while moderate activity is beneficial', said Dr Gudmundsdottir. The study involved 3000 women in Norway who were questioned about the frequency, duration and intensity of their fitness regimes between 1984 and 1986, and then asked about their pregnancies ten years later. 'Among these women, we found two groups who experienced an increased risk of infertility. There were those who trained almost every day and there were those who trained until they were exhausted. Those who did both had the highest risk of infertility', said Dr Gudmundsdottir, whose research appears in the medical journal Human Reproduction.

Gudmundsdottir and her team discovered that the women under 30 who exercised the most were those who had experienced the most problems conceiving; a quarter of these women were unable to conceive in the first year of trying, compared to a national average of seven per cent. The effect of the extreme exercise did not last however, 'The vast majority of women in the study had children in the end', Gudmundsdottir said, adding 'and those who trained the hardest in the middle of the 1980s were actually among those who had the most children in the 1990s'.

It is known that elite female athletes can experience fertility problems, however, this study shows that women who push themselves in their own exercise regimes are at risk too. Experts believe that intense physical activity, such as gruelling physical workouts, can actually leave the body energy-deficient, and unable to maintain all of the required hormonal mechanisms required for successful fertilisation. Some are warning however that the study only shows an association between extreme physical activity and fertility problems, not a cause-and-effect relationship, and the results should be seen in the context of other research recommending that healthy women benefit most from moderate exercise.

[ Full Article ]

The majority of single women who use artificial insemination with donor sperm (DI) in order to conceive do so because they fear that they will never find a suitable partner with whom to have children, not because they have fertility problems.

The finding was reported at the annual conference of the European Society of Human Reproduction and Embryology (ESHRE) in Vienna, Austria. Dr Clare Murray and colleagues from the Family and Child Research Centre at City University, London, UK, studied 22 single women and 36 married women who had used DI. All the women had children aged less than one year.

Dr Murray found that more than two-thirds of the single women said that they chose DI because they thought 'time was running out' to enter into a relationship with a man with whom they could have children naturally. Most of the women said they would prefer to have a child 'within the context of a relationship', although one third of them stated that they 'actively want to go it alone'. These tended to be women who had a 'strong social support network' and did not 'perceive much social stigma' attached to using DI. The study also found that children born to single mothers via DI appear to suffer no ill-effects from their method of conception.

Meanwhile, the world's first sperm bank service designed to help lesbian women become parents was launched in the UK last week. 'Man Not Included', an internet service, will match up lesbian couples with potential sperm donors. Donations would be made in one of a network of established clinics before being sent out to the couples for self-insemination. John Gonzales, the man behind the service, acknowledges that there will be some opposition to the scheme, but said 'this is a service that is wanted and needed by the lesbian community'.
[ Full Article ]

BACKGROUND

In Vitro maturation (IVM?) of oocytes is an innovative Assisted Reproduction Technology (ART) applicable for selected couples with male factor, tubal factor, unexplained infertility and PCO/PCOS. Immature Germinal Vesicle (GV) stage oocytes are retrieved during the woman?s natural cycle without any or minimal preceding hormone treatment. Oocyte maturation to Metaphase II stage oocytes takes place in vitro using the MediCult IVM? System. Standard ICSI or IVF protocols are used after maturation has been obtained or after subsequent insemination and fertilization.



ROUNDTABLE DISCUSSION

The course is designed to provide historical information, practical fundamentals, and an understanding of the skills required for reproductive clinicians, nurse managers and laboratory specialists to become comfortable and successful. It is recommended, but not required, that a team of one clinician, research nurse coordinator and a laboratory specialist from each center attend. The number of participants is limited and registrations will primarily be confirmed on a first come first served basis. The course is intended to present the latest information and technical skills to accurately incorporate IVM? into an IVF clinical settling through an open discussion format. Confirmation of the validity of this new and exciting option, potential concerns, and integration into practice will all be included. The session will conclude with a session on ?Where do we go from here??





SYMPOSIUM CURRICULUM



Friday, May 20, 2005

4-7:00 P.M. Registration & Reception



Saturday, May 21, 2005

8:00 A.M. Continental Breakfast

8:30 A.M. Welcoming Address

David Keefe, M.D.

8:45 A.M. History and Fundamentals of IVM?

H. Ingolf Nielsen, Ph.D.

9:15 A.M. European and Asian Experiences with IVM

H. Ingolf Nielsen, Ph.D. & Daniela Nogueira, Ph.D.

9:45 A.M. Break

10:00 A.M. Clinical Implementation of IVM

Anne Lis Mikkelsen, M.D., D.Sc.

11:00 A.M. Open Discussion

12:00 P.M. Lunch and Discussion- Who Pays, How Much and Other Practical Issues Related to IVM

David L. Keefe, M.D., Facilitator

1:00 P.M. Potential Applications of IVM in the U.S.

Trevor Steel, B.S. and David Keefe, MD

2:00 P.M. Site Management, Troubleshooting- The Nurse Manager

Kerri Martin, BSN, RN

3:30 P.M. Break

4:00 P.M. Questions & Answers

5:30 P.M. Break

6:30 P.M. Dinner

7:30 P.M. Dessert and Coffee

Open Discussion ?Where do we go from here??



Jointly sponsored and supported by Women & Infants Hospital of Rhode Island,

Tufts-New England Medical Center of Boston, Massachusetts and MediCult



A New Option- In Vitro Maturation of Human Oocytes IVM?



SCIENTIFIC CHAIR

David L. Keefe, M.D.

Division Director of Reproductive Medicine & Infertility

Women & Infants Hospital of Rhode Island

Providence, Rhode Island

Tufts - New England Medical Center

Boston, Massachusetts



SYMPOSIUM FACULTY

- Anne Lis Mikkelsen, M.D., D.Sc. Institute of Human Reproduction University of Copenhagen, Denmark

- H. Ingolf Nielsen, Ph.D., Consultant Embryologist, Director R&D Fertility, MediCult, Denmark

- David L. Keefe, M.D., Women & Infants Hospital, Providence, Rhode Island and Tufts New England Medical Center, Boston

- Daniela Nogueira, Ph.D., Women & Infants Hospital, Providence, Rhode Island and Tufts New England Medical Center, Boston, Massachusetts

- Kerri Martin, BSN, RN, Women & Infants Hospital, Providence, Rhode Island and Tufts New England Medical Center, Boston

- Trevor Steel, B.S., US Operations, MediCult, Napa, California



REGISTRATION FORM



Register on line at www.medicult.com. Provide the following information by April 20, 2005



Participant:



_______________________________________________________________________________

Last Name, First Name Title/Degree



_______________________________________________________________________________

Institution Department



_____________________________________________________

Mailing Address (Street, City, Zip)



_____________________________________________________

Office Telephone Office Fax Email Address





REGISTRATION INFORMATION



There is no registration fee.



Register meeting at www.medicult.com



ACCOMMODATIONS



The symposium is being held at the Crowne Plaza Hotel in Warwick, Rhode Island. The Crowne Plaza Hotel is located 8 minute south of downtown Providence, 2 miles from Providence T.F. Green Airport. It is centrally located to all destinations in southern New England and approximately 1 hour and 15 minutes south of Boston and Logan Airport. Free shuttle service available from Green Airport.



A block of rooms has been reserved at a special conference rate of $139.00 single/double occupancy, plus taxes, and will be held until April 20, 2005. To reserve accommodations at this rate contact The Crowne Plaza at 401-732-6000. Ask for the ?MediCult/Women & Infants Hospital Block Rooms.?



DRIVING DIRECTIONS



From I-95 north take Exit 12, or from I-95 south take exit 12a. Bear right. The driveway is on the right.

[ Full Article ]

The US state of Utah has passed a bill (SB14) that will legalise some surrogacy arrangements in the state. The bill originally passed through the state's Senate last month. Last week, members of the state House of Representatives voted 38 to 31 in favour of the bill, which says that only women who are married and medically unable to become pregnant or give birth would be allowed to enter into a surrogacy agreement. It also states that women used as surrogates must be financially stable - not on welfare - and must have previously carried and delivered a baby. The bill was passed through the House after an amendment was approved that excluded couples where one partner would provide neither the sperm nor the eggs from entering into a surrogacy arrangement. This means that both partial and full surrogacy are allowed, but not surrogacy where the embryo is wholly donated, either by the surrogate or anyone else.



Another amendment to the bill was defeated - this would have placed a limit on the amount of money the woman acting as surrogate could be paid for her services. Utah law previously prohibited payments to surrogates. The amendments to the bill then passed back to the state Senate to be approved, before final approval is given by the state's Governor. With little debate, the Senate gave its final endorsement to the amended version of the bill last Friday. A spokesman for Republican Governor Jon Huntsman said he is generally supportive of the bill but will wait to see it in its final form.



Republican representative Margaret Dayton said that she was worried that the new law would be used by 'career women' to start a family, and open the prospect of a market 'where we are going to save our best heifers, I mean women for breeding'. She said: 'I have a real concern about legalising this technology just because we can', adding 'I have great compassion for those who can't have children and want them, but I also know that there are many good children who need adopting'. Republican representative Eric Hutchings, who amended the bill to prohibit the use of a surrogate if the gametes of neither the intending mother nor father are used, likened the process of surrogacy to 'ready meals'. 'Currently, the parents don't have to put anything into it. They can buy the egg, buy the sperm, and rent the womb', he said, adding 'if that's the way they want to go, there are kids which are already cooked, they're already done'.



Representative Lorie Fowlke, the bill's sponsor, said that she was offended by some of the comments and assumptions made in the debate. She said the bill was intended to help those couples who could not have a child of their own, pointing out that the bill only allowed married couples to use a surrogate, and that there must be a medical reason indicating surrogacy as an option. 'There is nothing more painful to a woman who wants to be a mother and cannot, and we should provide this option to them', she said, adding that she had doubts that the bill would encourage or allow women to make a career out of being a surrogate.
[ Full Article ]

A doctor in the UK has had a baby boy free from an inherited disease following treatment in Belgium. Dr Mary Baum and her husband Philip travelled to Belgium for the treatment because it could not be performed in the UK.

Dr Baum and her husband already had two sons, one of which has the inherited condition tuberous sclerosis (TS), a genetic disease that affects about one in every 7000 babies and causes tuber-like growths to develop on the brain and in other organs. The growths can affect development and cause autism, epilepsy, developmental and behavioural difficulties and other problems. The couple's chance of having a second affected child was 50 per cent.

Despite the fact that fertility was not at issue, the couple needed to use IVF procedures to ensure that their third child was free from TS. IVF was used in conjunction with preimplantation genetic diagnosis (PGD), which involves taking a single cell from a 2-4 day old embryo, performing a genetic or chromosome test on that cell, and then returning one or two unaffected embryos to the womb. Dr Baum had made the decision to use PGD and was 'surprised' when she was told by the Hammersmith Hospital in London that they could not help.

While PGD itself is allowed in the UK, and the Human Fertilisation and Embryology Authority (HFEA), which licences the treatment has recently extended the conditions it can be used to screen for, TS is not currently one of these conditions. Each time a doctor wants to use PGD for a different condition in the UK, a new licence must be obtained - the Hammersmith Hospital told Dr Baum that it could take up to a year to obtain the necessary permission from the HFEA. Professor Lord Robert Winston, emeritus professor at the Hammersmith Hospital, said that getting the licence added to the burden of lack of resources and safety issues, because the test for TS was not straightforward to identify. 'The mutation is on two different chromosomes and we were not set up to do that at the time. And it is usually a dominant mutation, so if we had got it wrong it would have been disastrous', he said, adding that the red tape did not help. 'The HFEA are reluctant to give permission', he said, adding that he believed the policy of the HFEA to be discriminatory: 'Once you have agreed on the principle of PGD, I don't understand how you can distinguish between two diseases which might be fatal, or that constitute legitimate requirements to do an abortion'.

After some research, Dr Baum found two places in the world where the treatment could take place - the Vrije University Hospital in Brussels, Belgium, and Chicago, in the US. Their son Samuel was the first baby ever to be screened for the disease. Isobel McFarlane, spokesperson for the Tuberous Sclerosis Association commented that 'the sad thing is the UK has led the world in research on TS, yet this procedure, which could have been so helpful, wasn't available for Dr Baum at that stage - and it might not be available for other women in her situation'. 'I don't understand why Belgium has the manpower to do this and the UK doesn't', said Dr Baum.

[ Full Article ]